NM_203447.4(DOCK8):c.623A>G (p.Lys208Arg) AND Combined immunodeficiency due to DOCK8 deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000645146.7
Allele description [Variation Report for NM_203447.4(DOCK8):c.623A>G (p.Lys208Arg)]
NM_203447.4(DOCK8):c.623A>G (p.Lys208Arg)
Condition(s)
- Name:
- Combined immunodeficiency due to DOCK8 deficiency (HIES2)
- Synonyms:
- Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive; HIES autosomal recessive; Hyper-IgE recurrent infection syndrome, autosomal recessive; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009478; MedGen: C4722305; Orphanet: 217390; OMIM: 243700
Assertion and evidence details
Last Updated: Oct 21, 2023